ClinVar Miner

List of variants in gene CBL reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423 0.00019
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys) rs143132980 0.00011
NM_005188.4(CBL):c.2312A>T (p.Asp771Val) rs199788586 0.00010
NM_005188.4(CBL):c.2223G>A (p.Ala741=) rs202229538 0.00009
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp) rs371850672 0.00004
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu) rs533554769 0.00004
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp) rs397507497 0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276 0.00004
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys) rs746795014 0.00004
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu) rs373989524 0.00003
NM_005188.4(CBL):c.1512G>A (p.Pro504=) rs758285751 0.00003
NM_005188.4(CBL):c.1676G>T (p.Arg559Leu) rs143034856 0.00003
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile) rs762016318 0.00003
NM_005188.4(CBL):c.1927C>T (p.Leu643=) rs139939244 0.00002
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln) rs751198294 0.00002
NM_005188.4(CBL):c.801C>G (p.Gly267=) rs727502913 0.00002
NM_005188.4(CBL):c.1071C>T (p.Pro357=) rs397517075 0.00001
NM_005188.4(CBL):c.1096-1G>T rs397517076 0.00001
NM_005188.4(CBL):c.1622A>T (p.Asp541Val) rs147285276 0.00001
NM_005188.4(CBL):c.1891A>G (p.Arg631Gly) rs552590011 0.00001
NM_005188.4(CBL):c.2434+15dup rs397517079 0.00001
NM_005188.4(CBL):c.2583C>T (p.Ile861=) rs397517080 0.00001
NM_005188.4(CBL):c.2652C>T (p.Asn884=) rs879302360 0.00001
NM_005188.4(CBL):c.522T>C (p.Phe174=) rs727502912 0.00001
NM_005188.4(CBL):c.595A>G (p.Ile199Val) rs397517082 0.00001
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1096-4_1096-1del rs397517077
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.4(CBL):c.1129A>G (p.Thr377Ala) rs727502914
NM_005188.4(CBL):c.1228-10dup rs397517078
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005188.4(CBL):c.1283_1384del (p.Pro428_Glu461del) rs1555230119
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu) rs727504640
NM_005188.4(CBL):c.1962A>G (p.Leu654=) rs727502915
NM_005188.4(CBL):c.2185T>C (p.Cys729Arg) rs1950071650
NM_005188.4(CBL):c.2589C>G (p.Asn863Lys) rs397517081

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